ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8100+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003034644 SCV003328384 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-03-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individuals with autosomal dominant COL12A1-related conditions (PMID: 29342313, 31127727). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 52 of the COL12A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in COL12A1 cause disease.

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